A rare ancestral HLA-DRB1∗15:01~DQB1∗02:01 haplotype and its reversion in the same Western European family
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A rare ancestral HLA-DRB1∗15:01~DQB1∗02:01 haplotype and its reversion in the same Western European family. / Binder, Thomas M C; Kelsch, Reinhard; Wikner, Julia M; Aly, Lilian; Brendel, Cornelia; Alster, Ina; Kühnl, Peter; Finckh, Ulrich; Eiermann, Thomas H.
In: HUM IMMUNOL, Vol. 76, No. 2-3, 01.03.2015, p. 124-8.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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T1 - A rare ancestral HLA-DRB1∗15:01~DQB1∗02:01 haplotype and its reversion in the same Western European family
AU - Binder, Thomas M C
AU - Kelsch, Reinhard
AU - Wikner, Julia M
AU - Aly, Lilian
AU - Brendel, Cornelia
AU - Alster, Ina
AU - Kühnl, Peter
AU - Finckh, Ulrich
AU - Eiermann, Thomas H
N1 - Copyright © 2015 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.
PY - 2015/3/1
Y1 - 2015/3/1
N2 - The HLA-DR and -DQ loci are close neighbors on chromosome 6 that are highly linked. Many common associations between HLA-DR and DQ-alleles are known, normally transmitted as HLA-DR̃DQ haplotypes from one generation to another. Reports of very recent genetic rearrangements between HLA-DR and -DQ are rarely found in the literature. In Europeans haplotypes containing DRB1(∗)15:01, DQB1(∗)02:01, and DQA1(∗)05:01 have not been reported before. We report the finding of the rare HLA haplotype A(∗)24:02̃C(∗)07:02̃B(∗)07:02̃MICA(∗)008:01̃DRB5(∗)01:01̃DRB1(∗)15:01̃DQA1(∗)05:01̃DQB1(∗)02:01̃DPB1(∗)04:01 in a German stem cell donor with East Frisian ancestry. Our observation suggests a rare ancestral recombination between the DR and DQ loci. In order to investigate this haplotype, we typed 50/74 members of the family encompassing four generations for HLA classes I and II by serological and molecular methods. The rare haplotype was identified in 12 heterozygous carriers. Furthermore, we identified and further characterized a putative crossing over event resulting in its reversion to a common haplotype.
AB - The HLA-DR and -DQ loci are close neighbors on chromosome 6 that are highly linked. Many common associations between HLA-DR and DQ-alleles are known, normally transmitted as HLA-DR̃DQ haplotypes from one generation to another. Reports of very recent genetic rearrangements between HLA-DR and -DQ are rarely found in the literature. In Europeans haplotypes containing DRB1(∗)15:01, DQB1(∗)02:01, and DQA1(∗)05:01 have not been reported before. We report the finding of the rare HLA haplotype A(∗)24:02̃C(∗)07:02̃B(∗)07:02̃MICA(∗)008:01̃DRB5(∗)01:01̃DRB1(∗)15:01̃DQA1(∗)05:01̃DQB1(∗)02:01̃DPB1(∗)04:01 in a German stem cell donor with East Frisian ancestry. Our observation suggests a rare ancestral recombination between the DR and DQ loci. In order to investigate this haplotype, we typed 50/74 members of the family encompassing four generations for HLA classes I and II by serological and molecular methods. The rare haplotype was identified in 12 heterozygous carriers. Furthermore, we identified and further characterized a putative crossing over event resulting in its reversion to a common haplotype.
U2 - 10.1016/j.humimm.2015.01.016
DO - 10.1016/j.humimm.2015.01.016
M3 - SCORING: Journal article
C2 - 25636575
VL - 76
SP - 124
EP - 128
JO - HUM IMMUNOL
JF - HUM IMMUNOL
SN - 0198-8859
IS - 2-3
ER -